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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:NF2-EFCAB6

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NF2-EFCAB6
FusionPDB ID: 58721
FusionGDB2.0 ID: 58721
HgeneTgene
Gene symbol

NF2

EFCAB6

Gene ID

4771

64800

Gene nameneurofibromin 2EF-hand calcium binding domain 6
SynonymsACN|BANF|SCHDJBP|HSCBCIP1|dJ185D5.1
Cytomap

22q12.2

22q13.2-q13.31

Type of geneprotein-codingprotein-coding
Descriptionmerlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannominEF-hand calcium-binding domain-containing protein 6CAP-binding protein complex-interacting protein 1DJ-1-binding proteinepididymis secretory sperm binding protein
Modification date2020032220200313
UniProtAcc

P35240

Main function of 5'-partner protein: FUNCTION: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:20159598, ECO:0000269|PubMed:20178741, ECO:0000269|PubMed:21167305}.

Q5THR3

Main function of 5'-partner protein: FUNCTION: Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex. {ECO:0000269|PubMed:12612053}.
Ensembl transtripts involved in fusion geneENST idsENST00000334961, ENST00000338641, 
ENST00000353887, ENST00000361166, 
ENST00000361452, ENST00000361676, 
ENST00000397789, ENST00000403435, 
ENST00000403999, ENST00000347330, 
ENST00000413209, 
ENST00000356087, 
ENST00000358439, ENST00000461800, 
ENST00000262726, ENST00000396231, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 11 X 7=115529 X 21 X 6=3654
# samples 1831
** MAII scorelog2(18/1155*10)=-2.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(31/3654*10)=-3.55913651335325
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: NF2 [Title/Abstract] AND EFCAB6 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: NF2 [Title/Abstract] AND EFCAB6 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NF2(30051665)-EFCAB6(44083461), # samples:2
Anticipated loss of major functional domain due to fusion event.NF2-EFCAB6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NF2-EFCAB6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NF2-EFCAB6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NF2-EFCAB6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNF2

GO:0008285

negative regulation of cell proliferation

12444102|20178741

HgeneNF2

GO:0022408

negative regulation of cell-cell adhesion

17210637

HgeneNF2

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

12444102

HgeneNF2

GO:0046426

negative regulation of JAK-STAT cascade

12444102



check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:30051665/chr22:44083461)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonRetention analysis results of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features, are available here.

check buttonFusion gene breakpoints across NF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across EFCAB6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000338641NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-4624104036045141384
ENST00000338641NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-4624104036045141384
ENST00000403435NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-4594101033044841384
ENST00000403435NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-4594101033044841384
ENST00000361452NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-444285830143321343
ENST00000361452NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-444285830143321343
ENST00000403999NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-454996528544391384
ENST00000403999NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-454996528544391384
ENST00000334961NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-420662219140961301
ENST00000334961NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-420662219140961301
ENST00000353887NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-418660217140761301
ENST00000353887NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-418660217140761301
ENST00000361166NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-4183599040731357
ENST00000361166NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-4183599040731357
ENST00000397789NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-4183599040731357
ENST00000397789NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-4183599040731357
ENST00000361676NF2chr2230051665+ENST00000396231EFCAB6chr2244083461-4057473039471315
ENST00000361676NF2chr2230051665+ENST00000262726EFCAB6chr2244083461-4057473039471315

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000338641ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0018259220.9981741
ENST00000338641ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0018259220.9981741
ENST00000403435ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0018479870.99815196
ENST00000403435ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0018479870.99815196
ENST00000361452ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0019871330.9980129
ENST00000361452ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0019871330.9980129
ENST00000403999ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0018128820.9981871
ENST00000403999ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0018128820.9981871
ENST00000334961ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0018821410.9981179
ENST00000334961ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0018821410.9981179
ENST00000353887ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0019052910.99809474
ENST00000353887ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0019052910.99809474
ENST00000361166ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0013013670.9986986
ENST00000361166ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0013013670.9986986
ENST00000397789ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0013013670.9986986
ENST00000397789ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0013013670.9986986
ENST00000361676ENST00000396231NF2chr2230051665+EFCAB6chr2244083461-0.0013776070.9986224
ENST00000361676ENST00000262726NF2chr2230051665+EFCAB6chr2244083461-0.0013776070.9986224

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for NF2-EFCAB6

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
NF2chr2230051665EFCAB6chr22440834611010226RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr22440834611040226RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr2244083461473157RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr2244083461599199RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr2244083461602143RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr2244083461622143RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr2244083461858185RITAWYAEHRGRARFGLKATTKINWK
NF2chr2230051665EFCAB6chr2244083461965226RITAWYAEHRGRARFGLKATTKINWK

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Potential FusionNeoAntigen Information of NF2-EFCAB6 in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
NF2-EFCAB6_30051665_44083461.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:04GRARFGLKA0.99840.83151019
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:05HRGRARFGL0.9980.7164817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:04HRGRARFGL0.99790.73817
NF2-EFCAB6chr2230051665chr2244083461622HLA-A30:08RGRARFGLK0.99750.6562918
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:07HRGRARFGL0.99560.5115817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:04ARFGLKATT0.99230.69751221
NF2-EFCAB6chr2230051665chr2244083461622HLA-B44:03AEHRGRARF0.98360.8008615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B15:03AEHRGRARF0.02880.5987615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B07:10HRGRARFGL0.0220.653817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:05ARFGLKATTK0.99990.87211222
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:04ARFGLKATTK0.99880.78151222
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:02ARFGLKATTKI10.64111223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:05ARFGLKATTKI10.85971223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:07ARFGLKATTKI0.99990.57961223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:04ARFGLKATTKI0.99990.76971223
NF2-EFCAB6chr2230051665chr2244083461622HLA-A30:08RARFGLKATTK0.99940.75081122
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:14GRARFGLKA0.99870.79011019
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:14ARFGLKATT0.99380.76741221
NF2-EFCAB6chr2230051665chr2244083461622HLA-B73:01GRARFGLKA0.99040.68171019
NF2-EFCAB6chr2230051665chr2244083461622HLA-B73:01ARFGLKATT0.97790.83151221
NF2-EFCAB6chr2230051665chr2244083461622HLA-B39:12HRGRARFGL0.92430.5982817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:03HRGRARFGL0.84430.7512817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B39:08AEHRGRARF0.20510.7347615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:14ARFGLKATTK0.99980.79241222
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:03ARFGLKATTK0.99760.88321222
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:14RARFGLKATT0.83840.6211121
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:14ARFGLKATTKI10.77561223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:03ARFGLKATTKI0.99870.87011223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:08GRARFGLKA0.99870.75421019
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:10HRGRARFGL0.9980.8557817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:06HRGRARFGL0.99790.6834817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:08HRGRARFGL0.99790.6048817
NF2-EFCAB6chr2230051665chr2244083461622HLA-A30:01RGRARFGLK0.99740.7751918
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:09HRGRARFGL0.99630.6777817
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:08ARFGLKATT0.99240.71291221
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:10ARFGLKATT0.99240.82221221
NF2-EFCAB6chr2230051665chr2244083461622HLA-B44:13AEHRGRARF0.98360.8008615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B44:26AEHRGRARF0.98360.8008615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B44:07AEHRGRARF0.98360.8008615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B40:04AEHRGRARF0.94260.5622615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B18:11AEHRGRARF0.63210.8695615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B15:53AEHRGRARF0.09080.7249615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B15:54AEHRGRARF0.02090.7088615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B48:02AEHRGRARF0.01540.7254615
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:10ARFGLKATTK0.99980.88791222
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:08ARFGLKATTK0.99970.77841222
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:09ARFGLKATTKI0.99990.82911223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:06ARFGLKATTKI0.99990.78971223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:08ARFGLKATTKI0.99990.7581223
NF2-EFCAB6chr2230051665chr2244083461622HLA-B27:10ARFGLKATTKI0.99990.87641223
NF2-EFCAB6chr2230051665chr2244083461622HLA-A30:01RARFGLKATTK0.99940.87741122

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Potential FusionNeoAntigen Information of NF2-EFCAB6 in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
NF2-EFCAB6_30051665_44083461.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
NF2-EFCAB6chr2230051665chr2244083461622DRB1-0802ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-0809ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-0821ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-0824ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-0824RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1101ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1101RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1105ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1108ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1108RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1109ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1109RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1110ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1110RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1111ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1112ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1112RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1115ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1115RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1119ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1119RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1124ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1124RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1127ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1127RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1127TAWYAEHRGRARFGL217
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1128ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1128RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1129ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1129RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1131ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1131RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1132ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1132RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1133ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1133RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1137ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1137RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1139ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1139RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1149ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1149RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1151ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1151RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1153ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1153RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1161ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1161RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1162ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1162RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1164ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1166ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1166RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1169ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1169RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1172ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1172RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1173ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1173RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1174ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1174RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1175ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1175RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1179ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1179RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1180ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1180RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1180TAWYAEHRGRARFGL217
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1181ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1181RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1187ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1187RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1187TAWYAEHRGRARFGL217
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1190ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1190RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1191ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1191RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1193ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1193RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1193TAWYAEHRGRARFGL217
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1194ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1194RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1195ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1195RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1196ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1196RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1305ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1305RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1307ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1307RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1314ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1314RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1326ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1326RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1337ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1337RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1347ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1347RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1350ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1350RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1356ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1356RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1360ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1360RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1362ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1362RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1363ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1382ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1382RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1385ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1385RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1386ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1402ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1403ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1409ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1419ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1427ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1427RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1430ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1440ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1441ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1477ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1494ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB1-1498ITAWYAEHRGRARFG116
NF2-EFCAB6chr2230051665chr2244083461622DRB5-0106RITAWYAEHRGRARF015
NF2-EFCAB6chr2230051665chr2244083461622DRB5-0202RITAWYAEHRGRARF015

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Fusion breakpoint peptide structures of NF2-EFCAB6

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
154AEHRGRARFGLKATNF2EFCAB6chr2230051665chr2244083461622

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NF2-EFCAB6

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN154AEHRGRARFGLKAT-7.9962-8.1096
HLA-B14:023BVN154AEHRGRARFGLKAT-5.70842-6.74372
HLA-B52:013W39154AEHRGRARFGLKAT-6.83737-6.95077
HLA-B52:013W39154AEHRGRARFGLKAT-4.4836-5.5189
HLA-A11:014UQ2154AEHRGRARFGLKAT-10.0067-10.1201
HLA-A11:014UQ2154AEHRGRARFGLKAT-9.03915-10.0745
HLA-A24:025HGA154AEHRGRARFGLKAT-6.56204-6.67544
HLA-A24:025HGA154AEHRGRARFGLKAT-5.42271-6.45801
HLA-B44:053DX8154AEHRGRARFGLKAT-7.85648-8.89178
HLA-B44:053DX8154AEHRGRARFGLKAT-5.3978-5.5112
HLA-A02:016TDR154AEHRGRARFGLKAT-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of NF2-EFCAB6

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
NF2-EFCAB6chr2230051665chr22440834611019GRARFGLKACCGAGCCAGATTTGGACTTAAAGCCAC
NF2-EFCAB6chr2230051665chr22440834611121RARFGLKATTAGCCAGATTTGGACTTAAAGCCACCACTAA
NF2-EFCAB6chr2230051665chr22440834611122RARFGLKATTKAGCCAGATTTGGACTTAAAGCCACCACTAAAAT
NF2-EFCAB6chr2230051665chr22440834611221ARFGLKATTCAGATTTGGACTTAAAGCCACCACTAA
NF2-EFCAB6chr2230051665chr22440834611222ARFGLKATTKCAGATTTGGACTTAAAGCCACCACTAAAAT
NF2-EFCAB6chr2230051665chr22440834611223ARFGLKATTKICAGATTTGGACTTAAAGCCACCACTAAAATCAA
NF2-EFCAB6chr2230051665chr2244083461615AEHRGRARFAGAGCACCGAGGCCGAGCCAGATTTGG
NF2-EFCAB6chr2230051665chr2244083461817HRGRARFGLCCGAGGCCGAGCCAGATTTGGACTTAA
NF2-EFCAB6chr2230051665chr2244083461918RGRARFGLKAGGCCGAGCCAGATTTGGACTTAAAGC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
NF2-EFCAB6chr2230051665chr2244083461015RITAWYAEHRGRARFAATTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGATTTGG
NF2-EFCAB6chr2230051665chr2244083461116ITAWYAEHRGRARFGTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGATTTGGACT
NF2-EFCAB6chr2230051665chr2244083461217TAWYAEHRGRARFGLTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGATTTGGACTTAA

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Information of the samples that have these potential fusion neoantigens of NF2-EFCAB6

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
SKCMNF2-EFCAB6chr2230051665ENST00000334961chr2244083461ENST00000262726TCGA-FS-A4F4-06A

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Potential target of CAR-T therapy development for NF2-EFCAB6

check button Predicted 3D structure. We used RoseTTAFold.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to NF2-EFCAB6

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to NF2-EFCAB6

check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource